Variant report

Variant	rs12165286
Chromosome Location	chr21:45121242-45121243
allele	C/T
Outlinks	Ensembl UCSC

Chromatin state
Related regulatory elements
Target genes
Other information

TF binding
region (count:0)
CpG islands
(count:0)
Chromatin interactive
region (count:9)
LncRNA
region (count:0)
Mature miRNA
region (count: 0)
miRNA target
sites (count:0)

No data

(count:9 , 50 per page) page: 1

No.	Distal block	Cell Line	Cell type
1	chr21:45120451..45123154-chr21:45126649..45128378,2	MCF-7	breast:
2	chr21:45118387..45122878-chr21:45135250..45139536,6	K562	blood:
3	chr21:45118172..45120404-chr21:45121185..45123941,2	K562	blood:
4	chr21:45118942..45121311-chr21:45147502..45150284,2	K562	blood:
5	chr21:45112710..45116467-chr21:45117620..45123990,9	K562	blood:
6	chr21:45108111..45109755-chr21:45119044..45121389,2	K562	blood:
7	chr21:45118387..45122116-chr21:45137968..45140097,4	K562	blood:
8	chr21:45118554..45121566-chr21:45135917..45139666,5	MCF-7	breast:
9	chr21:45098409..45101229-chr21:45121225..45123505,2	MCF-7	breast:

No data

Variant related genes	Relation type
ENSG00000160209	Chromatin interaction

Extended variants
information (count: 49 )
Associated
traits (count: 0)

rSNPs within LD-proxies of this variant (count:39)

rs_ID	r²[population]
rs1041455	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs1073522	0.85[YRI][hapmap]
rs1122873	0.85[YRI][hapmap]
rs11911865	1.00[EUR][1000 genomes]
rs162366	0.84[YRI][hapmap]
rs162372	0.85[YRI][hapmap]
rs162375	0.84[YRI][hapmap]
rs162377	0.84[YRI][hapmap]
rs162380	0.85[YRI][hapmap]
rs162390	0.85[YRI][hapmap]
rs162399	0.85[YRI][hapmap]
rs162400	0.84[YRI][hapmap]
rs229357	0.85[YRI][hapmap]
rs2329600	1.00[EUR][1000 genomes]
rs2838316	0.89[YRI][hapmap]
rs2838320	0.89[YRI][hapmap]
rs2838324	0.85[YRI][hapmap]
rs2838337	0.85[YRI][hapmap]
rs2838339	0.89[YRI][hapmap]
rs28405975	0.90[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs4383428	0.89[AFR][1000 genomes]
rs4819219	0.85[YRI][hapmap]
rs61737067	0.93[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs6518302	0.89[YRI][hapmap]
rs718470	1.00[EUR][1000 genomes]
rs7276215	0.85[YRI][hapmap]
rs73369437	0.90[AFR][1000 genomes];0.81[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs73908376	1.00[EUR][1000 genomes]
rs8133523	0.85[YRI][hapmap]
rs8133686	0.81[AFR][1000 genomes]
rs9974513	0.95[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9974851	0.81[AFR][1000 genomes]
rs9977102	0.81[AFR][1000 genomes]
rs9977212	0.86[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9978403	0.89[AFR][1000 genomes];0.90[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9978934	0.95[YRI][hapmap];0.96[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9979935	0.95[YRI][hapmap];0.92[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9980578	1.00[AFR][1000 genomes];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]
rs9983752	0.89[YRI][hapmap];1.00[AMR][1000 genomes];1.00[EUR][1000 genomes]

Variant overlapped rSNPs/rCNVs (count:10 , 50 per page) page: 1

No.	Variant name	Chromosome position	Chromatin state	Related regulatory elements	Target genes	Extended variants	Associated traits
1	nsv913873	chr21:44879869-45142427	Enhancers Weak transcription Flanking Active TSS ZNF genes & repeats Bivalent Enhancer Active TSS Transcr. at gene 5' and 3' Strong transcription Bivalent/Poised TSS Genic enhancers Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA miRNA target site	64 gene(s)	inside rSNPs	diseases
2	nsv913874	chr21:45041790-45191005	Enhancers Strong transcription Weak transcription ZNF genes & repeats Flanking Active TSS Genic enhancers Bivalent/Poised TSS Active TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	36 gene(s)	inside rSNPs	diseases
3	nsv531544	chr21:45071371-45202912	Enhancers Flanking Active TSS Weak transcription Strong transcription Genic enhancers Active TSS Bivalent/Poised TSS Flanking Bivalent TSS/Enh Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	39 gene(s)	inside rSNPs	diseases
4	nsv1066728	chr21:45089877-45131723	Enhancers Genic enhancers Strong transcription Active TSS Weak transcription Bivalent/Poised TSS ZNF genes & repeats Flanking Bivalent TSS/Enh Flanking Active TSS Bivalent Enhancer	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	7 gene(s)	inside rSNPs	diseases
5	nsv531545	chr21:45095397-45395904	Enhancers Flanking Active TSS Weak transcription Flanking Bivalent TSS/Enh Genic enhancers Strong transcription Active TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	49 gene(s)	inside rSNPs	diseases
6	nsv1066613	chr21:45108233-45148136	Genic enhancers Enhancers Weak transcription Flanking Active TSS Strong transcription Flanking Bivalent TSS/Enh Active TSS Bivalent Enhancer Transcr. at gene 5' and 3' ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
7	esv3424986	chr21:45118675-45158421	Flanking Active TSS Enhancers Weak transcription Active TSS Genic enhancers Strong transcription Bivalent/Poised TSS Bivalent Enhancer ZNF genes & repeats Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
8	esv3329872	chr21:45118725-45158757	Active TSS Flanking Active TSS Bivalent Enhancer Enhancers Weak transcription Genic enhancers Strong transcription Transcr. at gene 5' and 3' Flanking Bivalent TSS/Enh Bivalent/Poised TSS ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	23 gene(s)	inside rSNPs	diseases
9	nsv913875	chr21:45119629-45191005	Weak transcription Enhancers Transcr. at gene 5' and 3' Genic enhancers Flanking Active TSS Strong transcription Active TSS Bivalent/Poised TSS Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	31 gene(s)	inside rSNPs	diseases
10	nsv913876	chr21:45119629-45267193	Enhancers Weak transcription Active TSS Flanking Active TSS Strong transcription Genic enhancers Transcr. at gene 5' and 3' Bivalent Enhancer Flanking Bivalent TSS/Enh ZNF genes & repeats Bivalent/Poised TSS	TF binding region CpG island Chromatin interactive region lncRNA miRNA target site	46 gene(s)	inside rSNPs	diseases

No data

Chromatin state (count:102 , 50 per page) page: 1 2 3

No.	Chromosome Location	Chromatin state	Cell line	Tissue
1	chr21:45080600-45122400	Weak transcription	ES-WA7 Cell Line	embryonic stem cell
2	chr21:45080800-45121800	Weak transcription	Fetal Heart	heart
3	chr21:45080800-45122600	Weak transcription	Small Intestine	intestine
4	chr21:45094800-45122000	Weak transcription	Right Atrium	heart
5	chr21:45111000-45130600	Weak transcription	HSMM	muscle
6	chr21:45111200-45122800	Weak transcription	Rectal Smooth Muscle	rectum
7	chr21:45113000-45122200	Weak transcription	H1 Derived Neuronal Progenitor Cultured Cells	ES cell derived
8	chr21:45113200-45122600	Weak transcription	Rectal Mucosa Donor 31	rectum
9	chr21:45113200-45123400	Weak transcription	HSMMtube	muscle
10	chr21:45113800-45121800	Weak transcription	hESC Derived CD56+ Ectoderm Cultured Cells	ES cell derived
11	chr21:45113800-45122400	Weak transcription	Fetal Brain Male	brain
12	chr21:45114000-45122400	Weak transcription	NHDF-Ad	bronchial
13	chr21:45114200-45122600	Weak transcription	Primary hematopoietic stem cells	blood
14	chr21:45114600-45122000	Weak transcription	Esophagus	oesophagus
15	chr21:45114600-45122200	Weak transcription	Psoas Muscle	Psoas
16	chr21:45114600-45123200	Weak transcription	iPS DF 6.9 Cell Line	embryonic stem cell
17	chr21:45114800-45122200	Weak transcription	Primary neutrophils fromperipheralblood	blood
18	chr21:45114800-45122200	Weak transcription	Primary T killer naive cells fromperipheralblood	blood
19	chr21:45114800-45122200	Weak transcription	Foreskin Fibroblast Primary Cells skin01	Skin
20	chr21:45115000-45122200	Weak transcription	Gastric	stomach
21	chr21:45115000-45122800	Weak transcription	iPS-15b Cell Line	embryonic stem cell
22	chr21:45115000-45122800	Weak transcription	Fetal Brain Female	brain
23	chr21:45115000-45130800	Weak transcription	Placenta Amnion	Placenta Amnion
24	chr21:45115200-45122200	Weak transcription	Adipose Nuclei	Adipose
25	chr21:45115400-45122400	Weak transcription	Fetal Lung	lung
26	chr21:45115600-45122600	Weak transcription	Osteobl	bone
27	chr21:45115800-45131800	Weak transcription	Muscle Satellite Cultured Cells	--
28	chr21:45116000-45122600	Weak transcription	NH-A	brain
29	chr21:45116200-45122000	Weak transcription	Foreskin Fibroblast Primary Cells skin02	Skin
30	chr21:45116200-45122200	Weak transcription	Placenta	Placenta
31	chr21:45116200-45122400	Weak transcription	hESC Derived CD184+ Endoderm Cultured Cells	ES cell derived
32	chr21:45116200-45122400	Weak transcription	Monocytes-CD14+_RO01746	blood
33	chr21:45116200-45122800	Weak transcription	iPS-18 Cell Line	embryonic stem cell
34	chr21:45116400-45121800	Weak transcription	Right Ventricle	heart
35	chr21:45116400-45122000	Weak transcription	Brain Germinal Matrix	brain
36	chr21:45116400-45122000	Weak transcription	Pancreas	Pancrea
37	chr21:45116400-45122200	Weak transcription	H1 Cell Line	embryonic stem cell
38	chr21:45116400-45122400	Weak transcription	HUES6 Cell Line	embryonic stem cell
39	chr21:45116400-45122400	Weak transcription	Primary T helper 17 cells PMA-I stimulated	--
40	chr21:45116400-45122600	Weak transcription	NHEK	skin
41	chr21:45116400-45123200	Weak transcription	H1 BMP4 Derived Trophoblast Cultured Cells	ES cell derived
42	chr21:45116600-45122000	Weak transcription	Left Ventricle	heart
43	chr21:45116600-45122200	Weak transcription	IMR90 fetal lung fibroblasts Cell Line	lung
44	chr21:45116600-45122200	Weak transcription	Primary B cells from peripheral blood	blood
45	chr21:45116600-45122400	Weak transcription	Ganglion Eminence derived primary cultured neurospheres	brain
46	chr21:45116600-45122400	Weak transcription	Aorta	Aorta
47	chr21:45116600-45122400	Weak transcription	Ovary	ovary
48	chr21:45116600-45122600	Weak transcription	Primary T cells from cord blood	blood
49	chr21:45116600-45126600	Weak transcription	Hela-S3	cervix
50	chr21:45116600-45132200	Weak transcription	NHLF	lung

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